Glut1 deficiency syndrome and erythrocyte glucose uptake assay

被引：83

作者：

Yang, Hong ^{[1
]}

Wang, Dong ^{[1
]}

Engelstad, Kristin ^{[1
]}

Bagay, Leslie ^{[1
]}

Wei, Ying ^{[1
]}

Rotstein, Michael ^{[1
]}

Aggarwal, Vimla ^{[1
]}

Levy, Brynn ^{[1
]}

Ma, Lijiang ^{[1
]}

Chung, Wendy K. ^{[1
]}

De Vivo, Darryl C. ^{[1
]}

机构：

[1] Columbia Univ, Dept Neurol, Colleen Giblin Labs Pediat Neurol Res, New York, NY 10032 USA

来源：

ANNALS OF NEUROLOGY | 2011年 / 70卷 / 06期

关键词：

BLOOD-BRAIN-BARRIER; MOVEMENT-DISORDERS; LACTIC-ACIDOSIS; TRANSPORTER; HYPOGLYCORRHACHIA; MENINGITIS; MUTATIONS; DIAGNOSIS; BACTERIAL; SPECTRUM;

D O I：

10.1002/ana.22640

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: The Glut1 deficiency syndrome (Glut1 DS) phenotype has expanded dramatically since first described in 1991. Hypoglycorrhachia and decreased erythrocyte 3-OMG uptake are confirmatory laboratory biomarkers. The objective is to expand previous observations regarding the diagnostic value of the uptake assay. Methods: One hundred and nine suspected cases of Glut-1 DS were studied. All cases had a consistent clinical picture and hypoglycorrhachia. The uptake assay was decreased in 74 cases (group 1) and normal in 35 cases (group 2). We identified disease-causing mutations in 70 group 1 patients (95%) and one group 2 patient (3%). Results: The cut-off for an abnormally low uptake value was increased from 60% to 74% with a corresponding sensitivity of 99% and specificity of 100%. The correlation between the uptake values for the time-curve and the kinetic concentration curve were strongly positive (R-2 = 0.85). Significant group differences were found in CSF glucose and lactate values, tone abnormalities, and degree of microcephaly. Group 2 patients were less affected in all domains. We also noted a significant correlation between the mean erythrocyte 3-OMG uptake and clinical severity (R-2 = 0.94). Interpretation: These findings validate the erythrocyte glucose uptake assay as a confirmatory functional test for Glut1 DS and as a surrogate marker for GLUT1 haploinsufficiency. ANN NEUROL 2011; 70: 996-1005

引用

页码：996 / 1005

页数：10

共 50 条

[21] Crystal structure of the human glucose transporter GLUT1 [J].

Deng, Dong ;

Xu, Chao ;

Sun, Pengcheng ;

Wu, Jianping ;

Yan, Chuangye ;

Hu, Mingxu ;

Yan, Nieng .

NATURE, 2014, 510 (7503) :121-+

[22] Glucose Transporter Type 1 (Glut1) Deficiency Syndrome Rare, But Treatable-Ketogenic Dietary Therapy as First-Line Therapy [J].

Schonlaub, A. ;

Holler, A. ;

Karall, D. ;

Klepper, J. ;

Scholl-Burgi, S. .

PADIATRIE UND PADOLOGIE, 2022, 57 (01) :16-22

[23] GLUT1 deficiency A glut of epilepsy phenotypes [J].

Scheffer, Ingrid E. .

NEUROLOGY, 2012, 78 (08) :524-525

[24] Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan [J].

Ito, Yasushi ;

Takahashi, Satoru ;

Kagitani-Shimono, Kuriko ;

Natsume, Jun ;

Yanagihara, Keiko ;

Fujii, Tatsuya ;

Oguni, Hirokazu .

BRAIN & DEVELOPMENT, 2015, 37 (08) :780-789

[25] Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome A Systematic Review [J].

Leen, Wilhelmina G. ;

Wevers, Ron A. ;

Kamsteeg, Erik-Jan ;

Scheffer, Hans ;

Verbeek, Marcel M. ;

Willemsen, Michel A. .

JAMA NEUROLOGY, 2013, 70 (11) :1440-1444

[26] Variety of symptoms of GLUT1 deficiency syndrome in three-generation family [J].

Winczewska-Wiktor, Anna ;

Hoffman-Zacharska, Dorota ;

Starczewska, Monika ;

Kaczmarek, Izabela ;

Badura-Stronka, Magdalena ;

Steinborn, Barbara .

EPILEPSY & BEHAVIOR, 2020, 106

[27] From splitting GLUT1 deficiency syndromes to overlapping phenotypes [J].

Hully, Marie ;

Vuillaumier-Barrot, Sandrine ;

Le Bizec, Christiane ;

Boddaert, Nathalie ;

Kaminska, Anna ;

Lascelles, Karine ;

de Lonlay, Pascale ;

Cances, Claude ;

Portes, Vincent des ;

Roubertie, Agathe ;

Doummar, Diane ;

LeBihannic, Anne ;

Degos, Bertrand ;

de Saint Martin, Anne ;

Flori, Elisabeth ;

Pedespan, Jean Michel ;

Goldenberg, Alice ;

Vanhulle, Catherine ;

Bekri, Soumeya ;

Roubergue, Anne ;

Heron, Benedicte ;

Cournelle, Marie-Anne ;

Kuster, Alice ;

Chenouard, Alexis ;

Loiseau, Marie-Noelle ;

Valayannopoulos, Vassili ;

Chemaly, Nicole ;

Gitiaux, Cyril ;

Seta, Nathalie ;

Bahi-Buisson, Nadia .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2015, 58 (09) :443-454

[28] Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome [J].

De Giorgis, Valentina ;

Masnada, Silvia ;

Varesio, Costanza ;

Chiappedi, Matteo A. ;

Zanaboni, Martina ;

Pasca, Ludovica ;

Filippini, Melissa ;

Macasaet, Joyce A. ;

Valente, Marialuisa ;

Ferraris, Cinzia ;

Tagliabue, Anna ;

Veggiotti, Pierangelo .

BRAIN AND BEHAVIOR, 2019, 9 (03)

[29] Movement Disorders in GLUT1 Deficiency Syndrome Respond to the Modified Atkins Diet [J].

Leen, Wilhelmina G. ;

Mewasingh, Leena ;

Verbeek, Marcel M. ;

Kamsteeg, Erik-Jan ;

van de Warrenburg, Bart P. ;

Willemsen, Michel A. .

MOVEMENT DISORDERS, 2013, 28 (10) :1439-1442

[30] Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency [J].

Yubero, Delia ;

O'Callaghan, Mar ;

Montero, Raquel ;

Ormazabal, Aida ;

Armstrong, Judith ;

Espinos, Carmina ;

Rodriguez, Maria A. ;

Jou, Cristina ;

Castejon, Esperanza ;

Aracil, Maria A. ;

Cascajo, Maria V. ;

Gavilan, Angela ;

Briones, Paz ;

Jimenez-Mallebrera, Cecilia ;

Pineda, Mercedes ;

Navas, Placido ;

Artuch, Rafael .

BMC PEDIATRICS, 2014, 14

← 1 2 3 4 5 →